developmental delay with neurofibromatosis?

[Chantaljoy]

Hi, I'm new here. I've lurked for a while but haven't posted. My DS is 15 months old and has gross motor delays. He is not able to walk or crawl yet. He can sit up and just learned how to roll. Some background: I am a carrier for Duchenne muscular dystrophy. My husband has neurofibromatosis. My DS has had his CPK tested twice (when high it's an indicator of Duchenne), and it has been normal. He does have 5 or 6 cafe au lait spots. I'm just wondering if developmental delays are common with NF? Also wondering if the CPK levels can go up as DS gets older. I am totally driving myself crazy with worry! Oh, he is also already in EI and a physical therapist visists twice a month. In the EI assessment report, the doctor who examined him insinuated that she thought he has Duchenne, but didn't come right out and say it. DS has been to a geneticist too, and he thought that DS has nf but not Duchenne. Sorry for the long, rambling post. For those that don't know, kids with Duchenne md typically have a lifespan only into their early twenties. That's why I am so concerned.

[MotherWhimsey]

I think that as long as muscle weakness is present then if it is DMD they would have a high CK level. My son was tested at either 6 or 9 months to rule out DMD by CK level. The neurologist seemed positive that he did not have DMD since his CK level was normal. I'm not totally positive that a normal CK in a one year old can rule it out, but in our case our dr took the normal CK to mean that he did not have DMD.

I have no idea about the NF though.

[sbgrace]

We were older when my son was tested. His CK was elevated (we got a muscular myopathy dx.) but not enough to signify Duchenne. My understanding at the time was the levels, especially early when muscle breakdown is in full swing and you're seeing symptoms if I remember right, are extremely elevated. So I believe if your son's issues were being caused by Duchenne you'd see extremely elevated CK levels.

I think I remember reading that there are some new breakthroughs in the treatment of Duchenne though I didn't follow up as it was ruled out for us. I would pester that geneticist until I was certain in your position.

That said, the cafe au lait spots and your husband's dx. does seem to make that the more likely explanation. What type? I believe in at least one type you can have hypotonia which would result in gross motor delays. I remember reading about that when I was searching for a cause of my son's hypotonia and other issues.

[Chantaljoy]

he has NF type 1. Thanks for the replies about the dmd...it is reassuring since both his CK's have come back normal.

[sbgrace]

Ok, NF1 can certainly have motor delays. One link said I think 21%.

I'm surprised genetics hasn't give you more information. Are they your only option to see genetics wise?

[kalynnsmom]

It's interesting that this topic is here. My son is 3 and has NF1 (as does dad and sister). He has some developmental delays-cognitive, speech, motor. No one has said why but I've wondered if it was because of the NF.

Do you have an NF clinic near you? We go to one in Dallas (Children's Medical Center).

[Chantaljoy]

Originally Posted by kalynnsmom

It's interesting that this topic is here. My son is 3 and has NF1 (as does dad and sister). He has some developmental delays-cognitive, speech, motor. No one has said why but I've wondered if it was because of the NF.

Do you have an NF clinic near you? We go to one in Dallas (Children's Medical Center).

I haven't tried an NF clinic...maybe they would be able to tell me if the delays are due to NF. I think the closest clinic to me is in Omaha.